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KEY FACTS
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Definitions
Rhizomelic short limb skeletal dysplasia
IMAGING
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Natural History & Prognosis
Selected References
Jeon GW et al: Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Ann Lab Med. 34(2):134-8, 2014
Wessels A et al: Atelosteogenesis type I: autopsy findings. Pediatr Dev Pathol. 14(6):496-500, 2011
Dwyer E et al: Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 152A(12):3043-50, 2010
Luewan S et al: Prenatal sonographic features of fetal atelosteogenesis type 1. J Ultrasound Med. 28(8):1091-5, 2009
Sawyer GM et al: Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 390(5):1030-47, 2009
Cordier AG et al: Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. Prenat Diagn. 28(10):975-7, 2008
Miller E et al: Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol. 38(12):1345-9, 2008
Miyake A et al: A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. J Hum Genet. 53(8):764-8, 2008
Lu J et al: Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 16(14):1661-75, 2007
Zhou X et al: Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. Proc Natl Acad Sci U S A. 104(10):3919-24, 2007
Farrington-Rock C et al: Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 27(7):705-10, 2006
Forlino A et al: Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. Novartis Found Symp. 273:193-206; discussion 206-12, 261-4, 2006
Maeda K et al: A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet A. 140(11):1143-7, 2006
Bicknell LS et al: Mutations in FLNB cause boomerang dysplasia. J Med Genet. 42(7):e43, 2005
Fernandez-Aguilar S et al: Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. Prenat Diagn. 25(8):717-8, 2005
Forlino A et al: A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet. 14(6):859-71, 2005
Krakow D et al: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 36(4):405-10, 2004
Macías-Gómez NM et al: Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. Am J Med Genet A. 129A(2):190-2, 2004
Ueno K et al: Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. Prenat Diagn. 22(12):1071-5, 2002
Karniski LP: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 10(14):1485-90, 2001
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Definitions
Rhizomelic short limb skeletal dysplasia
IMAGING
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Natural History & Prognosis
Selected References
Jeon GW et al: Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Ann Lab Med. 34(2):134-8, 2014
Wessels A et al: Atelosteogenesis type I: autopsy findings. Pediatr Dev Pathol. 14(6):496-500, 2011
Dwyer E et al: Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 152A(12):3043-50, 2010
Luewan S et al: Prenatal sonographic features of fetal atelosteogenesis type 1. J Ultrasound Med. 28(8):1091-5, 2009
Sawyer GM et al: Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 390(5):1030-47, 2009
Cordier AG et al: Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. Prenat Diagn. 28(10):975-7, 2008
Miller E et al: Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol. 38(12):1345-9, 2008
Miyake A et al: A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. J Hum Genet. 53(8):764-8, 2008
Lu J et al: Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 16(14):1661-75, 2007
Zhou X et al: Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. Proc Natl Acad Sci U S A. 104(10):3919-24, 2007
Farrington-Rock C et al: Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 27(7):705-10, 2006
Forlino A et al: Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. Novartis Found Symp. 273:193-206; discussion 206-12, 261-4, 2006
Maeda K et al: A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet A. 140(11):1143-7, 2006
Bicknell LS et al: Mutations in FLNB cause boomerang dysplasia. J Med Genet. 42(7):e43, 2005
Fernandez-Aguilar S et al: Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. Prenat Diagn. 25(8):717-8, 2005
Forlino A et al: A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet. 14(6):859-71, 2005
Krakow D et al: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 36(4):405-10, 2004
Macías-Gómez NM et al: Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. Am J Med Genet A. 129A(2):190-2, 2004
Ueno K et al: Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. Prenat Diagn. 22(12):1071-5, 2002
Karniski LP: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 10(14):1485-90, 2001
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